Variant report

Variant	rs12486616
Chromosome Location	chr3:191404391-191404392
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:191395265..191397942-chr3:191403159..191405641,2	MCF-7	breast:
2	chr3:191401415..191403217-chr3:191403592..191405646,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10937506	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10937508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10937509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486984	0.94[AMR][1000 genomes]
rs12488157	0.85[EUR][1000 genomes]
rs12488316	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12491520	0.94[AMR][1000 genomes]
rs12497353	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12497419	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12629345	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12629883	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12630470	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12635473	0.94[AMR][1000 genomes]
rs2886385	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55844081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58054649	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58284414	0.94[AMR][1000 genomes]
rs60279150	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60694545	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61440395	0.81[EUR][1000 genomes]
rs73888421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915689	chr3:191244719-191479974	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv997817	chr3:191284834-191475809	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1001082	chr3:191320636-191579587	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1009378	chr3:191359361-191928703	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1000060	chr3:191359361-191935048	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1002406	chr3:191380544-191404841	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv1002112	chr3:191395769-191471002	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv461121	chr3:191395972-191431496	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv592854	chr3:191395972-191431496	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191390800-191406400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr3:191392200-191404400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:191404200-191404800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr3:191404200-191405000	Enhancers	Fetal Heart	heart

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